Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1992-5-26
pubmed:abstractText
The fragile site at Xq27.3 is an unstable microsatellite repeat, p(CCG)n. In fragile-X syndrome pedigrees, this sequence exhibits variable amplification, the length of which correlates with fragile-site expression. There is a direct relationship between increased p(CCG)n copy number and propensity for instability: individuals having large amplifications exhibit somatic variation due to increased instability. The instability of the p(CCG)n repeat, when transmitted through affected pedigrees, explains the unusual segregation patterns of fragile-X phenotype, referred to as the Sherman paradox. All individuals of fragile-X genotype were found (where testing was possible) to have a parent with amplified p(CCG)n repeat, indicating that few, if any, cases of fragile-X syndrome are not familial.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-1671806, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-1672039, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-1672291, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-1675488, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-1677119, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-1710175, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-1757956, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-1878973, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-1913811, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-1944473, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-1997211, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-2031184, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-2031189, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-2035525, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-2037294, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-2263470, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-2323087, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-2886048, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-2916582, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-3205741, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-3629260, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-3657865, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-3692144, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-3838733, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-3865188, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-3943868, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-6712153, http://linkedlifedata.com/resource/pubmed/commentcorrection/1570846-6935681
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0002-9297
pubmed:author
pubmed:issnType
Print
pubmed:volume
50
pubmed:owner
NLM
pubmed:authorsComplete
N
pubmed:pagination
968-80
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
1992
pubmed:articleTitle
Fragile-X syndrome: unique genetics of the heritable unstable element.
pubmed:affiliation
Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, Australia.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't